Structural basis for anomalous cellular trafficking behavior of glaucoma-associated A427T mutant myocilin.

• Tác giả: Jennifer A Faralli, M Elizabeth Fini, Kamisha R Hill, Tatsuo Itakura, Raquel L Lieberman, Donna M Peters, Hailee F Scelsi, Hannah A Youngblood
• Ngôn ngữ: eng
• Ký hiệu phân loại: 591.5 Behavior
• Thông tin xuất bản: United States : bioRxiv : the preprint server for biology , 2025
• Bộ sưu tập: NCBI
• ID: 682729

Tóm tắt

Familial mutations in myocilin cause vision loss in glaucoma due to misfolding and a toxic gain of function in a senescent cell type in the anterior eye. Here we characterize the cellular behavior and structure of the myocilin (myocilin